PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.

ABSTRACT: The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case records by clinicians and rare disease scientists, we have developed the PhenomeCentral portal (https://phenomecentral.org). Each record includes a phenotypic description and relevant genetic information (exome or candidate genes). PhenomeCentral identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users, enabling both hypothesis-free and hypothesis-driven matchmaking. Users can then

SUBMITTER: Buske OJ 

PROVIDER: S-EPMC5467641 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature